| | PCR primers, designed to cover well-annotated human exons, are used to |
| | amplify 48 DNA from the CEPH families. The products are sequenced |
| | using both forward and reverse primers and the sequences are compared |
| | to each other and the genomic reference using ExoTrace. |
| | Exotrace identifies high-quality differences between the sequences, |
| | identfying heterozygous sequences by comaparing the heights of the peaks |
| | observed. |
| | SNPs are classified according to the degree of supporting data available: |
| | SHW2 All 3 possible genotypes seen in double stranded DNAs |
| | SHW1 All 3 possible genotypes seen - one dependant on single stranded DNA |
| | MHo2 Both possible homozygotes are seen in multiple double-stranded DNA |
| | MHe2 One homozygote and the heterozygote are seen in multiple double-stranded DNA |
| | SHo2 Both possible homozygotes are seen - one in only a single double-stranded DNA |
| | SHe2 One homozygote and the heterozygote - one in only a single double-stranded DNA |
